SuspectedSuspectedIFNIFNγγ receptor deficiency receptor deficiency

dr. László Vaszil

Buda Children’s Hospital

Budapest, Hungary

1/9

Prologue: History

• The patient was born in 1985

• Her family had no special diseases, no death of unknown cause

• She has no sibling

• She has no history of any serious diseases and has normal BCG scar

2/9

First act: (May 2000) I.

• Fever, extensive bilateral pneumonia unresponsive to combined / broad spectrum antibiotics progression

• Serology:

Mycoplasma pneumoniae: doubtful, 5 days later positive

Chlamydia pneumoniae, Legionella, Aspergillus,

Candida, Adenovirus, CMV, EBV: negative

• Bronchoscopy: negative, culture: negative, PCR for Mycobacterium tuberculosis: positive

• Mantoux test: negative

• Gastric lavage for Mycobacteria: negative

3/9

• Intravenous Rifampicin therapy regression of the pneumonia

• 10 days after the initiation of Rifampicin bilateral submandibular lymph node enlargement appeared which lasted for 6 days. By the hematologist’s opinion it was part of the infection (reactive lymphadenitis)

• After 18 days of hospitalisation, the patient was emitted in good overall condition with no fever, normal laboratory inflammatory parameters and slowly normalising chest radiography

First act: (May 2000) II.

4/9

Second act: 6 months later I.

• Unilateral submandibular lymph node enlargement, exscessive glossitis, stomatitis with subfebrility, yellowish-gray fur on the tonsils

• Moderately elevated laboratory inflammatory parameters (SR: 37 mm/h, CRP: 11 mg/l). She received oral cefuroxime.

• After temporary regression the lymph node enlargement became apparent again. The serologic blood tests showed a decreasing level of IgM for Mycoplasma pneumoniae, but proved a new infecton of Chlamydia pneumoniae. The other laboratory parameters did not change.

5/9

Second act: 6 months later II.

• The oral cefuroxime was changed to oral dirithromycin which lead only to temporary regression and the dirithromycin was changed to azithromycin but again only transient regression could be reached.

• Aspiration biopsy of the lymph node showed non-specific inflammation with no sign of malignancy. PCR test of the aspirate was positive for Chlamydia pneumoniae and Mycobacteria (Mycobacterium avium?)

• She received oral clarithromycin for 6 weeks and her complaints diminished, the laboratory parameters normalised and her lymph nodes regrediated to normal size

6/9

Interlude: the next 2 years

• Extensive furunculosis of the right gluteal area, several weeks of surgical treatment and oral amoxicillin/calvulanic acid (Staph. epidermidis)

• Furunculosis of the pubes and severe vulvitis (E. coli, Staph. epidermidis)

• Urinary tract infection (E. coli)

7/9

Third act: the lymph nodes again…

• In the end of 2003 she developed an unilateral submandibular lymph node enlargement again and navel inflammation

• She had hepatomegaly

• The inflammatory parameters showed no elevation, but the liver enzimes and immune globuline concentrations were elevated

• She did not receive antibiotic treatment, the condition resolved in a short period of time

8/9

Epilogue: IFNγ receptor deficiency?

• In the beginning of this year she developed multiplex paronychia of both hands

• The bacterial culture showed Staphilococcus aureus but the possibility of atipical mycobacterial infection was raised again

• Immunologic examinations are currently ongoing for IFNγ receptor deficiency

9/9

Thank you for your attention